VPS13B

vacuolar protein sorting 13 homolog B
OMIM: 607817
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COHEN SYNDROME 193538
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COHEN SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome, 216550, COHEN SYNDROME
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome, 216550, COHEN SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome, 216550, COHEN SYNDROME
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome, 216550, Cohen syndrome, Dysmorphism, mental retardation, obesity, deafness, neutropenia, Congenital defects of phagocyte number or function
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions
R-numbers: R149
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Cohen syndrome, OMIM:216550